婴儿纤维性错构瘤的临床病理学特征

付刚8bid499jz5 2022-10-07 发布于河南

展开全文

● 前言 ●

世界卫生组织第五版软组织与骨肿瘤分类中对最新研究的婴儿纤维性错构瘤形态学表现和发病机制进行了补充。

Fibrous hamartoma of infanc

婴儿纤维性错构瘤

【Definition】

Fibrous hamartoma of infancy is a benign soft tissue neoplasm of infants and young children, showing organoid, triphasic morphology with bundles of bland fibroblastic/myofibroblastic cells; nodules of primitive, rounded or stellate cells with myxoid stroma, and mature adipose tissue.

【定义】

婴儿纤维性错构瘤是发生婴儿和幼儿的一种良性软组织肿瘤，显示器官样三相形态：温和的纤维母/肌纤维母细胞束状排列、伴黏液样基质的原始圆形或星状细胞呈结节状、成熟脂肪组织。

【ICD-0 coding】

8992/0 Fibrous hamartoma of infancy

【ICD-0编码】

8992/0 婴儿纤维性错构瘤

【ICD-11 coding】

LC2Y Other specified hamartomata derived from dermal connective tissue

【ICD-11编码】

LC2Y 起源于真皮结缔组织的其他特定错构瘤

【Related terminology】

Not recommended: subdermal fibromatous tumour of infancy

【相关术语】

不推荐：婴儿皮下纤维瘤样肿瘤

【Subtype(s)】

None

【亚型】

无

【Localization】

Fibrous hamartoma of infancy commonly invoIves the axilla, trunk, upper extremities, and genital regions. This lesion has also been described in other locations, including scalp, foot, hand, orbit, and buttock.

【部位】

婴儿纤维性错构瘤通常累及腋窝、躯干、上肢和生殖器区域。这种病变在其他部位也有描述，包括头部、足、手、眼眶和臀部。

【Clinical features】

Fibrous hamartoma of infancy typically prese nts as pain less solitary subcutaneous masses, sometimes with overlying skin discolouration, oedema, hypertrichosis, and tethering. There are rare reports of this tumour type presenting as multiple lesions in the same patient and in patients with tuberous sclerosis and Williams syndrome.

【临床特征】

婴儿纤维性错构瘤通常表现为无痛性的孤立皮下肿块，有时伴有皮肤变色、水肿、多毛症和tethering。少数病例表现为在同一患者以及结节性硬化和威廉姆斯综合征患者中出现多个病灶。

【Epidemiology】

Fibrous hamartoma of infancy is rare and most often occurs in children aged < 2 years, with a male predominance. However, it can occur in older children. About 15-25% of cases are congenital.

【流行病学】

婴儿纤维性错构瘤少见，好发于2岁以下儿童，男性多见。也可能发生于大龄儿童。约15～25%的病例是先天性的。

【Etiology】

Unknown

【病因学】

不明

【Pathogenesis】 Although fibrous hamartoma of infancy was historically considered a hamartoma, the recent discovery of recurrent EGFR exon 20 insertion/duplication mutations in this lesion indicates a neoplastic process. Minimal to moderate EGFR (HER1) protein expression has been reported, mostly in the primitive mesenchyme.	【发病机制】虽然婴儿纤维性错构瘤曾被认为是错构瘤，但最近在该病变中发现重现性EGFR第20外显子插入/复制突变，表明它是肿瘤性病变。据报道，低或中等强度表达EGFR（HER1）蛋白，主要表达于原始间叶组织中。
【Macroscopic appearance】 The excised lesions are poorly circumscribed and of varying size (mean: 3 cm). The cut surfaces have a variable amount of adipose tissue and greyish-tan fibrous tissue.	【大体表现】切除的病灶界限不清，大小不等（平均3厘米）。切面可见数量不等的脂肪组织和灰白色纤维组织。
【Histopathology】	【组织病理学】
Fibrous hamartoma of infancy has a triphasic organoid pattern with haphazardly arranged fascicles of cytologically bland fibroblastic/ myofibroblastic cells, admixed with mature adipose tissue and myxoid nodules containing primitive mesenchymal cells with rounded to stellate nuclei.	婴儿纤维性错构瘤具有三相器官样模式，细胞学上为温和的纤维母/肌纤维母细胞的随机束状排列，与成熟脂肪组织和黏液样结节混合组成，结节内含圆形至星状核的原始间充质细胞。
One quarter of cases show areas resembling giant cell fibroblastoma, composed of hyaliriized zones containing collagen with cracking artefact forming slit-like spaces lined by flattened tumour cells.	1/4的病例显示类似于巨细胞纤维母细胞瘤区域，由含有胶原的玻璃样变区组成，伴有被覆扁平肿瘤细胞的假裂隙样结构。
Mitotic figures are infrequent, and necrosis is typically absent.	核分裂像不常见，通常无坏死。
Interspersed inflammatory cells can be seen.	可见散在的炎性细胞。
Very recently, two tumours showing both typical and sarcomatous morphology were reported as part of a larger series.	最近，大宗病例报道了两例既显示典型形态又显示肉瘤形态的肿瘤。
By immunohistochemistry, fibrous hamartoma of infancy shows variable expression of SMA in the fibroblastic areas and occasionally in the primitive mesenchyme.	免疫组化显示，婴儿纤维性错构瘤中的纤维母细胞区和偶尔在原始间叶成分中显示不同程度的SMA表达。
CD34 is expressed within the primitive mesenchyme and in areas with giant cell fibroblastoma-like morphology.	CD34在原始间叶组织和巨细胞纤维母细胞瘤样形态的区域表达。

【Cytology】

FNA shows bland-appearing fibroblasts in a collagenous matrix and mature fat without substantial nuclear atypia or mitoses.

【细胞学】

细针穿刺细胞学显示在胶原基质见温和纤维母细胞和成熟脂肪，未见明显的核异型或核分裂象。

Figure 1. Fibrous hamartoma of infancy. A mixture of immature mesenchyme, mature fibroblasts, and adipose tissue is arranged in a haphazard organoid fashion.

图1 婴儿纤维性错构瘤：未成熟间叶组织、成熟的纤维母细胞和脂肪组织呈器官样方式无序排列。

Figure 2. Fibrous hamartoma of infancy. This lesion contains areas with a pseudoangiomatous giant cell fibroblastoma-like pattern, as shown by the dilated vessels and dense collagen (A). CD34 expression is found in this area (B).

图2 婴儿纤维性错构瘤：该病变包含假血管瘤样巨细胞纤维母细胞瘤样模式的区域，如扩张的血管和致密的胶原（A），此区域表达CD34（B）。